A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025395



Internal ID18767927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52380188..52438563hg38UCSC Ensembl
Innerchr6:52244986..52303361hg19UCSC Ensembl
Innerchr6:52352945..52411320hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3858376
hg1958376
hg1858376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657457
Samples
Known GenesEFHC1, PAQR8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025395
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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